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Aliases for MIA2 Gene

Aliases for MIA2 Gene

  • Melanoma Inhibitory Activity 2 2 3
  • CTAGE Family Member 5, ER Export Factor 3 5
  • CTAGE5 3 5
  • Meningioma Expressed Antigen 6 (Coiled-Coil Proline-Rich) 3
  • Cutaneous T-Cell Lymphoma-Associated Antigen 5 3
  • Melanoma Inhibitory Activity Protein 2 3
  • Meningioma-Expressed Antigen 6/11 3
  • CTAGE Family, Member 5 3
  • CTAGE Family Member 5 3
  • Protein CTAGE-5 3
  • TANGO1-Like 2
  • MGEA11 3
  • MGEA6 3
  • MEA6 3
  • MGEA 3

External Ids for MIA2 Gene

Previous GeneCards Identifiers for MIA2 Gene

  • GC14P037083
  • GC14M033560
  • GC14P037693
  • GC14P038772
  • GC14P039703
  • GC14P019817
  • GC14P039230

Summaries for MIA2 Gene

Entrez Gene Summary for MIA2 Gene

  • This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]

GeneCards Summary for MIA2 Gene

MIA2 (Melanoma Inhibitory Activity 2) is a Protein Coding gene. Diseases associated with MIA2 include Melanoma and Familial Idiopathic Basal Ganglia Calcification. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. An important paralog of this gene is CTAGE1.

UniProtKB/Swiss-Prot for MIA2 Gene

  • Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Isoform 1 plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homeostasis (By similarity).

Gene Wiki entry for MIA2 Gene

Additional gene information for MIA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIA2 Gene

Genomics for MIA2 Gene

GeneHancer (GH) Regulatory Elements for MIA2 Gene

Promoters and enhancers for MIA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I039231 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +2.9 2853 3.3 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 TCF12 ZNF143 MIA2 CTAGE5 ENSG00000258526 FBXO33 LOC100288846 GC14M039196
GH14I039228 Enhancer 0.8 Ensembl ENCODE 550.8 -1.1 -1069 2.2 TEAD4 TAL1 JUNB CBFA2T3 EBF1 BATF ZNF48 NR2F2 IKZF1 CBFA2T2 CTAGE5 MIA2 YTHDF2P1 GC14M039196
GH14I039376 Enhancer 0.8 Ensembl ENCODE 11 +146.9 146924 1.9 SMARCE1 HDAC1 MAFG PLRG1 SP1 JUND GATA3 MTA1 HDAC2 NFE2 CTAGE5 FBXO33 MIA2 GEMIN2 SEC23A ENSG00000271424 COILP1
GH14I039368 Enhancer 0.8 ENCODE 10.8 +138.4 138435 0.8 SOX13 CTCF PKNOX1 ARNT ZNF792 SAP130 ARID4B ZNF384 KMT2B RAD21 CTAGE5 MIA2 PNN ENSG00000271424 PIR47323
GH14I039185 Enhancer 0.6 ENCODE 11.6 -44.7 -44651 1.1 ZNF3 ZBED1 MXD4 KAT8 SSRP1 POLR2B ZGPAT POLR2A BCLAF1 SUPT5H MIA2 CTAGE5 FBXO33 TRAPPC6B GC14P039181 GC14P039193 GC14P039155
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MIA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MIA2 gene promoter:

Genomic Locations for MIA2 Gene

Genomic Locations for MIA2 Gene
chr14:39,230,231-39,388,513
(GRCh38/hg38)
Size:
158,283 bases
Orientation:
Plus strand
chr14:39,699,435-39,722,859
(GRCh37/hg19)

Genomic View for MIA2 Gene

Genes around MIA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIA2 Gene

Proteins for MIA2 Gene

  • Protein details for MIA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PC5-MIA2_HUMAN
    Recommended name:
    Melanoma inhibitory activity protein 2
    Protein Accession:
    Q96PC5
    Secondary Accessions:
    • A1L4H0
    • Q9H6C1

    Protein attributes for MIA2 Gene

    Size:
    1412 amino acids
    Molecular mass:
    159836 Da
    Quaternary structure:
    • Isoform 1 may interact with APOB and MIA3 (PubMed:27138255). Isoform 1 may interact with the COPII coat subunits SEC23A and SEC24C (By similarity).
    SequenceCaution:
    • Sequence=AAL26990.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB15339.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MIA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIA2 Gene

Post-translational modifications for MIA2 Gene

  • Glycosylation at isoforms=259 and isoforms=2368

No data available for DME Specific Peptides for MIA2 Gene

Domains & Families for MIA2 Gene

Gene Families for MIA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for MIA2 Gene

Suggested Antigen Peptide Sequences for MIA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96PC5

UniProtKB/Swiss-Prot:

MIA2_HUMAN :
  • The proline-rich domain (PRD) probably mediates interaction with the COPII coat subunits.
  • Belongs to the MIA/OTOR family.
Domain:
  • The proline-rich domain (PRD) probably mediates interaction with the COPII coat subunits.
Family:
  • Belongs to the MIA/OTOR family.
genes like me logo Genes that share domains with MIA2: view

Function for MIA2 Gene

Molecular function for MIA2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Isoform 1 plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homeostasis (By similarity).

Gene Ontology (GO) - Molecular Function for MIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21525241
GO:0008047 enzyme activator activity TAS 9356211
genes like me logo Genes that share ontologies with MIA2: view

Phenotypes for MIA2 Gene

GenomeRNAi human phenotypes for MIA2:
genes like me logo Genes that share phenotypes with MIA2: view

miRNA for MIA2 Gene

miRTarBase miRNAs that target MIA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MIA2 Gene

Localization for MIA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIA2 Gene

Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Endoplasmic reticulum exit sites. {ECO:0000269 PubMed:21807889}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIA2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070971 endoplasmic reticulum exit site IDA 21525241
genes like me logo Genes that share ontologies with MIA2: view

Pathways & Interactions for MIA2 Gene

genes like me logo Genes that share pathways with MIA2: view

Gene Ontology (GO) - Biological Process for MIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0032527 protein exit from endoplasmic reticulum IMP 21525241
GO:0035459 cargo loading into vesicle IMP 27170179
GO:0043085 positive regulation of catalytic activity IEA --
GO:0070973 protein localization to endoplasmic reticulum exit site IMP 25202031
genes like me logo Genes that share ontologies with MIA2: view

No data available for SIGNOR curated interactions for MIA2 Gene

Drugs & Compounds for MIA2 Gene

No Compound Related Data Available

Transcripts for MIA2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIA2 Gene

No ASD Table

Relevant External Links for MIA2 Gene

GeneLoc Exon Structure for
MIA2
ECgene alternative splicing isoforms for
MIA2

Expression for MIA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MIA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MIA2 Gene

This gene is overexpressed in Liver (x21.0), Kidney - Cortex (x8.5), Pancreas (x6.8), and Small Intestine - Terminal Ileum (x6.7).

Protein differential expression in normal tissues from HIPED for MIA2 Gene

This gene is overexpressed in Lymph node (27.7), Uterus (8.9), Esophagus (7.6), and Rectum (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MIA2 Gene:

MIA2

mRNA Expression by UniProt/SwissProt for MIA2 Gene:

Q96PC5-MIA2_HUMAN
Tissue specificity: Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis (PubMed:12586826). Isoform 1 is specifically expressed in lung, testis, small intestine, colon, pancreas, kidney, liver and prostate (PubMed:27138255).

Evidence on tissue expression from TISSUES for MIA2 Gene

  • Liver(4.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with MIA2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIA2 Gene

Orthologs for MIA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTAGE5 34 33
  • 99.55 (n)
OneToMany
dog
(Canis familiaris)
Mammalia CTAGE5 33
  • 90.87 (n)
-- 34
  • 52 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CTAGE5 33
  • 88.49 (n)
-- 34
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100912115 33
  • 83.55 (n)
mouse
(Mus musculus)
Mammalia Ctage5 34 33
  • 83.31 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 40 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves MIA2 33
  • 70.56 (n)
-- 34
  • 36 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 36 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctage5 33
  • 58.43 (n)
Str.4085 33
zebrafish
(Danio rerio)
Actinopterygii ctage5 34 33
  • 54.46 (n)
OneToMany
zgc56047 33
fruit fly
(Drosophila melanogaster)
Insecta Tango1 34
  • 10 (a)
OneToMany
Species where no ortholog for MIA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIA2 Gene

ENSEMBL:
Gene Tree for MIA2 (if available)
TreeFam:
Gene Tree for MIA2 (if available)

Paralogs for MIA2 Gene

Variants for MIA2 Gene

Sequence variations from dbSNP and Humsavar for MIA2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
VAR_036460 A breast cancer sample p.Asp437His
rs75318507 benign, not specified 39,314,801(+) TATATATATAT/TATAT/TATATAT/TATATATAT/TATATATATATAT/TATATATATATATAT intron_variant, splice_donor_variant
rs1000046190 -- 39,294,652(+) G/A intron_variant
rs1000078052 -- 39,317,450(+) G/A intron_variant
rs1000095651 -- 39,331,284(+) TTTTTTTT/TTTTTTTTT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MIA2 Gene

Variant ID Type Subtype PubMed ID
esv3308013 CNV mobile element insertion 20981092
esv3382801 CNV insertion 20981092
esv3584293 CNV gain 25503493
nsv1053133 CNV gain 25217958
nsv84871 CNV deletion 16902084

Variation tolerance for MIA2 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MIA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIA2 Gene

Disorders for MIA2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MIA2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
familial idiopathic basal ganglia calcification
  • bilateral striopallidodentate calcinosis
- elite association - COSMIC cancer census association via MalaCards
Search MIA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MIA2

genes like me logo Genes that share disorders with MIA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MIA2 Gene

Publications for MIA2 Gene

  1. TANGO1 and Mia2/cTAGE5 (TALI) cooperate to export bulky pre-chylomicrons/VLDLs from the endoplasmic reticulum. (PMID: 27138255) Santos AJ … Malhotra V (The Journal of cell biology 2016) 2 3 4 58
  2. Specific expression and regulation of the new melanoma inhibitory activity-related gene MIA2 in hepatocytes. (PMID: 12586826) Bosserhoff AK … Hellerbrand C (The Journal of biological chemistry 2003) 2 3 4 58
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 3 4 58
  4. Reduced cholesterol and triglycerides in mice with a mutation in Mia2, a liver protein that localizes to ER exit sites. (PMID: 21807889) Pitman JL … Gekakis N (Journal of lipid research 2011) 3 4 58
  5. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjöblom T … Velculescu VE (Science (New York, N.Y.) 2006) 3 4 58

Products for MIA2 Gene

Sources for MIA2 Gene

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